Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
carnitine palmitoyltransferase 2 0.596 0.483 5.1E-10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.596 0.483 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.472 0.724 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.551 0.448 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.557 0.483 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.559 0.655 1.9E-23
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
ATP binding cassette subfamily C member 8 0.508 0.690 2.7E-23
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 0.609 0.448 1.2E-14
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 6660
Gene Symbol: SOX5
SOX5
SRY-box 5 0.616 0.621 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 1 0 2015 2015
Entrez Id: 27077
Gene Symbol: B9D1
B9D1
B9 domain containing 1 0.633 0.586 2.9E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
forkhead box P1 0.528 0.690 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27010
Gene Symbol: TPK1
TPK1
thiamin pyrophosphokinase 1 0.928 8.8E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ
ubiquinol-cytochrome c reductase complex III subunit VII 0.762 0.276 5.1E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
AT-hook DNA binding motif containing 1 0.727 0.414 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
methylmalonic aciduria and homocystinuria, cblD type 0.707 0.345 2.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2
HtrA serine peptidase 2 0.582 0.448 3.7E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22
coiled-coil domain containing 22 0.676 0.448 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 27315
Gene Symbol: PGAP2
PGAP2
post-GPI attachment to proteins 2 0.834 0.207 0.94
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 28960
Gene Symbol: DCPS
DCPS
decapping enzyme, scavenger 0.762 0.241 1.9E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 28976
Gene Symbol: ACAD9
ACAD9
acyl-CoA dehydrogenase family member 9 0.727 0.345 2.6E-08
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 29072
Gene Symbol: SETD2
SETD2
SET domain containing 2 0.465 0.724 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
NADH:ubiquinone oxidoreductase complex assembly factor 4 0.656 0.448 0.52
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
solute carrier family 17 member 5 0.547 0.759 8.4E-10
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 25828
Gene Symbol: TXN2
TXN2
thioredoxin 2 0.676 0.379 2.7E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
mitochondrial tRNA translation optimization 1 0.636 0.345 6.9E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 0 0